A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10447699



Internal ID449515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32263080..32278636hg38UCSC Ensembl
chr2:32488149..32503705hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3815557
hg1915557
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590245
Supporting Variants
SamplesHG00500
Known GenesNLRC4, YIPF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10447699
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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